Common Variable Immune Deficiency (CVID) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
2693 CD19 81479,81479 Order Options and Pricing
CD81 81479,81479
CR2 81479,81479
ICOS 81479,81479
IKZF1 81479,81479
IL21 81479,81479
IRF2BP2 81479,81479
LRBA 81479,81479
MS4A1 81479,81479
NFKB1 81479,81479
NFKB2 81479,81479
PRKCD 81479,81479
TNFRSF13B 81479,81479
TNFRSF13C 81479,81479
TTC37 81479,81479
VAV1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2693Genes x (16)81479 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Common Variable Immune Deficiency (CVID) is the most common primary immune deficiency affecting one in ~25,000 births. CVID is hallmarked by impaired B cell differentiation and antibody production, namely IgG and IgA. CVID is primarily diagnosed via exclusion of other primary immune disorders, however, recurrent bacterial infections after two years of age, poor response of vaccines, decreased IgG and IgA are indicative of CVID (Conley et al. 1999. PubMed ID: 10600329). About half of CVID patients also present with decreased serum IgM. CVID is a heterogeneous disorder affecting multiple organ systems with symptoms ranging from autoimmune disease, chronic lung disease, bronchiectasis, gastrointestinal disease, malabsorption, granulomatous disease, liver disease, and/or lymphoma (Resnick et al. 2012. PubMed ID: 22180439; Conley et al. 2009. PubMed ID: 19302039). Due to the highly variable clinical presentation of CVID, median diagnostic delay is 4.1 years with 20% of patients being diagnosed before 20 years of age. The majority of patients with CVID are diagnosed between the ages of 20-45 years old (Gathmann et al. 2014 PubMed ID: 24582312). Genetic testing is helpful in differential diagnosis from other immundeficiencies including agammaglobulinemia, B-cell and T-cell deficiencies, complement deficiencies, and other primary and secondary immundeficiencies (Conley et al. 2009. PubMed ID: 19302039).

Genetics

In about 75% of CVID, a molecular diagnosis is not found. This is due to the multifactorial etiology of CVID including both genetic and environmental factors. Autosomal dominant CVIDs occur through pathogenic variants in the TNFRSF13B, IRF2BP2, NFKB1, NFKB2, VAV1 and IKZF1 genes. Autosomal recessive CVIDs occur through pathogenic variants in the ICOS, IL21, CD81, MS4A1, NFKB2, CR2, LRBA, TNFRSF13C, TTC37, or CD19 genes (Bousfiha et al. 2018. PubMed ID: 29226301; Picard et al. 2018. PubMed ID: 29226302). About 20% of CVID cases are due to pathogenic variants in the TNFRSF13B gene with ~90% of these cases being sporadic. Two missense variants, c.310T>C (p.Cys104Arg) and c.542C>A (p.Ala181Glu) are most commonly found and represent about 80% of all TNFRSF13B-related CVID cases (Salzer et al. 2009. PubMed ID: 18981294).

Other disorders that have phenotypic overlap with CVID include autoimmune lymphoproliferative syndrome III, Trichohepatoenteric syndrome 1, and congenital disorder of glycosylation type IIb which are all autosomal recessive disorders due to pathogenic variants in the PRKCD, TTC37 and MOGS genes respectively (Picard et al. 2018. PubMed ID: 29226302).

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 50 patients with Common Variable Immune Deficiency, a genetic diagnosis was found in 15 cases. Pathogenic variants were identified in the TNFRSF13B (14%), NFKB1 (10%), STAT3 (6%), CTLA4 (4%), PIK3CD (2%), IZKF1 (2%), LRBA (4%), and STXBP2 (2%) genes (Maffucci et al. 2016. PubMed ID: 27379089). Gross deletions in the CD19, ICOS, VAV1, and LRBA genes have been reported in a few cases (Kanegane. 2007. PubMed ID: 17882224; Grimbacher. 2003. PubMed ID: 12577056; Capitani. 2012. PubMed ID: 23058036; Johnson. 2017. PubMed ID: 28473463; Burns. 2012. PubMed ID: 22981790).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for CVID testing show a decrease of serum IgG and IgA levels, onset of immunodeficiency at greater than 2 years of age, absent isohemagglutinins and/or poor response to vaccines, and exclusion of other defined causes of hypogammaglobulinemia. Diagnosis of CVID is largely done through exclusion of other causes of hypogammaglobulinemia including drug induced, chromosomal abnormalities, infectious diseases, malignancy, and other inherited immunodeficiency diseases (Conley et al. 1999. PubMed ID: 10600329; Bousfiha et al. 2018. PubMed ID: 29226301).

Genes

Official Gene Symbol OMIM ID
CD19 107265
CD81 186845
CR2 120650
ICOS 604558
IKZF1 603023
IL21 605384
IRF2BP2 615332
LRBA 606453
MS4A1 112210
NFKB1 164011
NFKB2 164012
PRKCD 176977
TNFRSF13B 604907
TNFRSF13C 606269
TTC37 614589
VAV1 164875
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
PGxome®
Autoimmune Lymphoproliferative Syndrome via the FAS Gene
Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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